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August 29, 2005
Pediatrician receives award for gene work

BY tia mccollors

Emory geneticist and developmental pediatrician Jeannie Visootsak recently was recognized for researching and raising awareness of Klinefelter syndrome, the most common sex chromosomal condition in humans.

Visootsak received the American Association for Klinefelter Syndrome Information and Support’s (AAKSIS) Achievement Award at the organization’s sixth national conference on July 29. Gov. Sonny Purdue also declared the day as Klinefelter Syndrome Awareness Day in the state of Georgia.

“I appreciate the award tremendously since it came from the parents of children with Klinefelter syndrome,” said Visootsak, assistant professor of human genetics in the School of Medicine. “We’ve worked together for many years to increase awareness of the condition, and it’s important that we continue to conduct research in this area in order to find meaningful interventional therapy to optimize the lives of boys with Klinefelter syndrome.”

Also known as 47,XXY, Klinefelter syndrome occurs in males (about 1 in 500) who have three or more sex chromosomes; at least two of them must be X chromosomes and one must be a Y chromosome. The normal male chromosome pattern is 46XY. Incidence of Klinefelter syndrome may be higher since it is uncommonly diagnosed or misdiagnosed. The exact cause is unknown.

The abnormal number of chromosomes may result in several physical changes. The condition causes underdeveloped testicles, taller-than-average height, a feminine body build and a high incidence of infertility. Because of primary testicular failure, the affected males do not produce enough testosterone and will need testosterone treatment for the rest of their lives, Visootsak said.

Males affected by Klinefelter Syndrome are also at an increased risk for conditions such as autoimmune disorders, type II diabetes, hypothyroidism, osteoporosis, depression and dental problems. According to one study, it is estimated that 65 percent of those with the disorder have not been identified. Persons with Klinefelter Syndrome who are not diagnosed fail to receive the medical care needed to offset related medical problems and health risks.

“It’s important that we conduct longitudinal prospective studies on these boys to gain a better understanding of their cognitive behavior and learning profiles,” Visootsak said. “Since these boys have speech delays, it’s important that they receive early speech therapy so as not to risk having academic challenges and behavioral problems.”

Visootsak joined the Emory faculty in 2004 and currently directs the Down syndrome, Fragile X syndrome and Genetic Management clinics. She is one of the few physicians in the United States with expertise in Klinefelter syndrome.

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